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Gen Path > Section 6 Continued > Flashcards

Section 6 Continued Flashcards

1
Q

Complex multigenic disorders

A

More than 2 altered genes

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2
Q

Complex multigenic Disorders usually result of the sum of ___ and ___

A

Genetics

Environment

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3
Q

Features of complex multigenic disorders

A
  1. Increase number of altered genes = increase risk
  2. Identical twins share risk
  3. Relatives have similar risk
  4. Expression in 1 child = increase risk in siblings
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4
Q

Loss of genetic material is more

A

Severe

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5
Q

Gain of genetic material is

A

Less severe

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6
Q

Example of loss of genetic material

A

Monosomy

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7
Q

Example of gain of genetic material

A

Trisomy

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8
Q

Most ___ are spontaneous

A

Chromosomal disorders

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9
Q

Down Syndrome

A

Trisomy 21

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10
Q

Edwards Syndrome

A

Trisomy 18

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11
Q

Patau Syndrome

A

Trisomy 13

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12
Q

Cri du Chat

A

Fragmented 5th chromosome

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13
Q

Freq. of Down syndrome

A

1 in700

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14
Q

Freq. of Edwards Syndrome

A

1 in 8,000

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15
Q

Freq. of patau syndrome

A

1 in 15,000

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16
Q

Cri du chat freq.

A

1 in 50,000

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17
Q

___ and ___ commonly affected in chromosomal disorders

A

Brain

Kidney

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18
Q

MC chromosomal disorder

A

Trisomy 21

Down syndrome

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19
Q

Largest risk for Down syndrome

A

Advanced maternal age

> 45 years

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20
Q

People with trisomy 21 have ___ chromosomes

A

47

23 +24

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21
Q

Down syndrome is commonly due to

A

Meiotic nondisjunction

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22
Q

30% of people with Down syndrome have

A

Atlantoaxial instability

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23
Q

Signs of Down syndrome

A 
Cognitive impairment 
Flat facies 
Epicanthic folds 
Cardiac malformations
Upslanted palpebral fissures 
Simian crease 
Shy demeanor
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24
Q

Patients with Down syndrome are predisposed to

A

Leukemia
Lung infections
Alzheimer’s disease

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25
Q

Freq. of DiGeorge Syndrome

A

1 in 4,000

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26
Q

22q11.2 Deletion Syndromes

A
  1. DiGeorge Syndrome

2. Velocardiofacial Syndrome

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27
Q

3 causes of Down syndrome

A
  1. Meiotic nondisjunction (95%)
  2. Robertsonian Translocation (4%)
  3. Mosaicism (1%)
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28
Q

Most severe way to acquire Down syndrome

A

Meiotic nondisjunction

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29
Q

Signs of DiGeorge Syndrome

A 
C- cardiac anomalies
A- abnormal facies 
T- thymus hypoplasia 
C- cleft palate
H- hypocalcemia (hypoparathyroidism)
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30
Q

Signs of Velocardiofacial syndrome

A

Pronounced cardiac and facial abnormalities

Mild immunodeficiency

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31
Q

2 allosomal Disorders

A

Klinefelter syndrome

Turner syndrome

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32
Q

Sex chromosome disorders are

A

Less severe, more compatible with life

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33
Q

Lyonization

A

X- inactivation

Results in Barr body

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34
Q

Klinefelter syndrome MC on

A

47th chromosome, XXY

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35
Q

Klinefelter syndrome is a result of

A

Meiotic nondisjunction

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36
Q

Freq. of Klinefelter syndrome

A

1 in 1,000 males

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37
Q

MC cause of male hypogonadism and sterility

A

Klinefelter syndrome

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38
Q

Turner syndrome is MC from

A

Absence of X chromosome (45X)

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39
Q

Freq. of Turner syndrome

A

1 in 3000 females

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40
Q

Signs of Turner syndrome

A
  1. Short stature
  2. Amenorrhea (streak ovaries)
  3. Neck webbing
  4. Cubitus Valgus
  5. Many moles
  6. Heart malformations
  7. Shield chest (wide set nipples)
  8. Androgynous appearance
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41
Q

Turner syndrome can result from loss of

A

Short (p) arm on an X

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42
Q

Examples of single gene disorders with atypical inheritance

A
  1. Triplet-repeat mutations
  2. Mitochondrial gene mutations
  3. Genomic imprinting
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43
Q

Fragile X syndrome example of

A

Triplet-repeat mutation

> 200 CGGs

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44
Q

Gene affected in fragile X syndrome

A

FMR1

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45
Q

More repeats in fragile X syndrome means the condition is

A

More severe

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46
Q

Signs of fragile X syndrome

A
  1. Microorchidism (90%)
  2. Long face
  3. Large mandible
  4. Large/everted ears
  5. Flat feet
  6. Hypotonia
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47
Q

Fragile X is unique for 2 reasons

A
  1. Genetic anticipation

2. Can affect females

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48
Q

Genetic anticipation

A

Condition worsens with each successive generation

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49
Q

Leber hereditary optic neuropathy example of

A

Mitochondrial gene mutations

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50
Q

Leber hereditary optic phosphorylation signs

A

Degeneration of retinal ganglia and CNII

Progressive and bilateral loss of central vision

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51
Q

Mitochondrial gene mutations follow a strict

A

Maternal inheritance

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52
Q

Angalman syndrome and Prader-Willi syndrome are examples of

A

Genomic imprinting

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53
Q

Angelman syndrome

A

Paternal imprinting and maternal deletion of 15q12

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54
Q

Signs of angleman syndrome

A 
Mental retardation 
Seizures 
Ataxia
Happy puppet syndrome 
Love water
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55
Q

Prader-Willi syndrome

A

Maternal imprinting and paternal deletion of 15q12

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56
Q

Signs of Prader-Willi syndrome

A 
Hypotonia 
Mental retardation 
Obesity - hyperplasia 
Short stature
Small hands/feet 
Hypogonadism
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57
Q

Epigenetic silencing freq.

A

1 in 25,000

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58
Q

3% of neonates have

A

Congenital anomalies

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59
Q

2 types of perinatal infections

A

Transcervical

Transplacental

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60
Q

Transcervical infections

A

MC bacteria

Enter amniotic fluid

61
Q

MC bacteria in transcervical infections

A

Neisseria gonorrhea
Chlamydia trachomatis
Candida albicans

62
Q

Transplacental infections

A

Blood to baby

63
Q

Causes of transplacental infections

A 
T- toxoplasma gondii 
O- other 
R- rubella virus 
C- CMV
H- HSV
64
Q

2nd cause of neonatal mortality

A

Prematurity

65
Q

Prematurity born at

A

<37 weeks

66
Q

Respiratory distress syndrome has low

A

Surfactant

67
Q

Prematurity and respiratory distress syndrome relationship

A

<28 wks= 60%

>35 wks = 5%

68
Q

Potential causes of respiratory distress syndrome

A

Maternal diabetes
C- section
Males

69
Q

Treatment for respiratory distress syndrome

A

Steroids
Surfactant
Artificial ventilation

70
Q

Respiratory distress syndrome can lead to

A

Atelectasis

Tissue hypoxia

71
Q

Pre-term

A

<37 wks

72
Q

Early term

A

37-38 wks

73
Q

Full term

A

39-40 wks

74
Q

Late term

A

41st wk

75
Q

Post-term

A

<42 weeks

76
Q

Pediatric respiratory distress syndrome is ___, with __ absent

A

Non-inflammatory

Neutrophils

77
Q

Necrotizing Enterocolitis (NEC) can result in ___ due to underdeveloped GI tract

A

GI necrosis and ulceration

78
Q

Locations of NEC

A

Ileum
Cecum
Ascending colon

79
Q

Risks for NEC

A

Premature
Enteral feeding
Very low birth weight (10%)

80
Q

Histological evidence of RDS

A

Hyaline membranes

81
Q

Abdomen is distended in NEC due to

A

Gas buildup

82
Q

Bloody stools in NEC can indicate

A

Circulatory collapse

83
Q

3rd MC cause of infantile death

A

SIDs

84
Q

Age range of SIDS

A

90% <6 months

MC 2-4 months

85
Q

SIDS is

A

Idiopathic

86
Q

Pneumatosis Intestinalis in NEC

A

Gas collections in abdomen due to infections

87
Q

Triple risk model for SIDS

A
  1. Vulnerable infant
  2. Critical development time for homeostasis
  3. Exogenous stressors
88
Q

Vulnerable infant for SIDS

A

Male
Family history
Hypoplasia of arcuate nucleus

89
Q

Critical time for homeostasis

A

1 month - 1 year

90
Q

Other risks for SIDS

A 
Prone sleeping (50% of risk)
Soft bedding 
Bed co-sharing (<3 months)
Maternal smoking 
URTI 
Limited prenatal care
91
Q

Causes of small for gestational age

A
  1. Maternal abnormalities
    (Malnutrition, diabetes, preeclampsia, teratogenic exposure)
  2. Fetal abnormalities
  3. Placental abnormalities
92
Q

Surfactant produced by

A

Type 2 pneumocytes

93
Q

Surfactant production results in reduced

A

Surface tension in lungs

94
Q

Low surfactant can lead to

A

Atelectasis

95
Q

___ regulates surfactant production in mature fetal lung tissue

A

Cortisol

96
Q

Fetal Hydrops

A

Severe fetal edema during gestation

97
Q

Categories of fetal Hydrops

A

Hydrops Fetalis

Cystic hygroma

98
Q

Hydrops Fetalis

A

Widespread edema

Lethal

99
Q

Cystic hygroma

A

Localized edema

Compatible with life

100
Q

Possible causes of fetal Hydrops

A

Fetal anemia

Cardiovascular abnormalities

101
Q

Complete recovery of fetal Hydrops usually results in

A

Cystic hygroma

102
Q

Immune Hydrops aka

A

Erythroblastosis Fetalis

103
Q

Antibody- induced hemolysis

A

Immune Hydrops

104
Q

Immune Hydrops occurs due to blood incompatibility, but is rare due to

A

Rh prophylaxis

Anti-D or RhoGAM

105
Q

MC fetal Hydrops

A

Nonimmune fetal Hydrops

106
Q

Result of erythroblastosis Fetalis

A

Kernicterus

107
Q

Kernicterus observes an increase in ___ , which is neurotoxic and can accumulate in __ and ___

A

Bilirubin

Basal ganglia
Brain stem

108
Q

2nd MC death from 5-14 years old

A

Pediatric tumors

109
Q

Benign pediatric tumors

A

Hemangioma

Lymphangiomas

Sacrococcygeal teratomas

110
Q

Signs of hemangiomas

A

Nevus Flammeus
“Port wine stain”

Nevus flammeus nuchae
“Stork bite”

Strawberry appearance

111
Q

<1% all bone tumors of vertebral bodies or skull

A

Vertebral hemangioma

112
Q

MC germ cell tumor of childhood

A

Sacrococcygeal teratoma

113
Q

Lymphangiomas common in these areas

A

Neck
Trunk
Axilla

114
Q

___ hemangiomas are less likely to naturally fade with age

A

Flat

115
Q

Sign of vertebral hemangiomas

A

Corduroy vertebrae

116
Q

Most sacrococcygeal teratomas are

A

Benign

117
Q

Malignant sacrococcygeal teratomas location

A

Internal, near bladder or rectum

118
Q

Immature teratomas have ___ and __ features

A

Benign and malignant

119
Q

MC childhood cancer

A

Leukemia

120
Q

Pediatric malignancy affects these tissues:

A

Hematopoietic
Neuronal
Soft tissues

121
Q

Cancer of neural crest-derived cells

A

Neuroblastoma

122
Q

Neuroblastoma affects __ and ___, components of the SNS

A 
Sympathetic ganglia (60%)
Adrenal medulla (40%)
123
Q

Sign of neuroblastoma

A

Catecholamines in urine

124
Q

Neuroblastoma composes 50% of ___ cancers and 7-10% ___ cancers

A

Infantile

All pediatric cancers

125
Q

Neuroblastoma Mets via

A

Blood or lymphatics

126
Q

“Blueberry muffin baby” observed with ___ in this stage

A

Neuroblastoma

Stage 4S

127
Q

Neuroblastoma Mets usually goes to

A

Liver
Lungs
Bone marrow

128
Q

Homer-wright (pseudo) rosettes

A

Malignant neural crest cells surrounding neutrophil

Most secrete catecholamines (NE)

129
Q

Homer-wright rosettes observed in

A

Neuroblastoma

130
Q

Retinoblastoma

A

Retinal CA

131
Q

Retinoblastoma MC age __ and is rarely ___

A

2

Congenital

132
Q

Retinoblastoma can be __ or __

A

Genetic

Sporadic

133
Q

Most cases of retinoblastoma are ___

A

Sporadic (60%)

134
Q

Genetic retinoblastoma

A

Inherited RB mutation

135
Q

Sporadic retinoblastoma

A

Sporadic RB mutation

136
Q

Genetic retinoblastoma is multiple and ___

A

Bilateral

137
Q

Genetic retinoblastoma increases risk of

A

Sarcomas

138
Q

Pediatric cancers are usually composed of ___ cells

A

Primitive/ embryonal

139
Q

In patients older than 2 yo, ___ may go unnoticed until metastatic destruction

A

Neuroblastoma

140
Q

Stage 4S of neuroblastoma involve Mets to

A

Liver
Skin
Bone marrow

141
Q

Signs of retinoblastoma

A

Pain
Cat’s eye reflex
Strabismus (cross-eyed)
Poor vision

142
Q

Flexner-wintersteiner rosettes

A

Cuboidal cells around empty lumen

143
Q

Flexner-wintersteiner rosettes observed in

A

Retinoblastoma

144
Q

Retinoblastoma can Mets via ___ and affect Calvarium, or other osseous or lymphatic tissues

A

CN2

145
Q

Wilms tumor aka

A

Nephroblastoma

146
Q

Wilms tumor is childhood

A

Renal cancer

147
Q

Wilms tumor MC

A

2-5 yo

148
Q

Wilms tumor associated with WAGR syndrome, which stands for

A

Wilms tumor
Aniridia
Genitourinary
Mental retardation

149
Q

Treatment for wilms tumor

A

Nephrectomy

Chemo

Gen Path (10 decks)

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